ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.273del (p.Cys92fs)

gnomAD frequency: 0.00001  dbSNP: rs755000580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822134 SCV000962923 pathogenic Autosomal recessive early-onset Parkinson disease 6 2023-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664114). This variant is also known as c.367delC (p.G91GfsX105). This premature translational stop signal has been observed in individual(s) with autosomal dominant Parkinson disease and/or autosomal recessive Parkinson disease (PMID: 24677602). This variant is present in population databases (rs755000580, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Cys92Alafs*15) in the PINK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PINK1 are known to be pathogenic (PMID: 15087508, 15349870).

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